Canonical Allele Identifier: CA2664568575
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14129400-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129400C>T , CM000665.2:g.14129400C>T GRCh38
NC_000003.11:g.14170900C>T , CM000665.1:g.14170900C>T GRCh37
NC_000003.10:g.14145901C>T NCBI36
NG_008975.1:g.9461C>T , LRG_435:g.9461C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*43-12C>T ENSP00000395617.1:n.*43-12C>T
ENST00000306077.5:c.13-12C>T MANE Select ENSP00000303992.5:n.13-12C>T
ENST00000306077.4:c.13-12C>T ENSP00000303992.4:n.13-12C>T
ENST00000432444.1:c.*43-12C>T ENSP00000395617.1:n.*43-12C>T
NM_024334.2:c.13-12C>T , LRG_435t1:c.13-12C>T NP_077310.1:n.13-12C>T
XM_011534109.1:c.-93-12C>T XP_011532411.1:n.-93-12C>T
XM_017007176.2:c.-93-12C>T XP_016862665.1:n.-93-12C>T
NM_024334.3:c.13-12C>T MANE Select NP_077310.1:n.13-12C>T
Search 100 bp 5'
Search 100 bp 3'